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FLASH GENE
Symbol PPFIA1 contributors: mct/npt - updated : 23-05-2008
HGNC name protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1
HGNC id 9245
Location 11q13.3      Physical location : 70.116.822 - 70.230.500
Synonym name
  • LAR-interacting protein 1
  • PTPRF interacting protein alpha 1
  • Synonym symbol(s) LIP-1, LIP1, LIPRIN, MGC26800, FLJ41337, FLJ42630, FLJ43474
    DNA
    TYPE functioning gene
    STRUCTURE 114.04 kb     32 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D11S913 - D11S1337 - ALDH3B2 - CCND1 - GALE - PPFIA1 - D11S1314 - D11S4184 - D11S916 - qter
    Authors Gene Map (98)
    Physical map
    GAL 11q13.3-q13.5 galanin MTL5 11q13.2-q13.3 metallothionein-like 5, testis-specific (tesmin) CPT1A 11q13.1-q13.2 carnitine palmitoyltransferase 1A (liver) MRPL21 11q13.1 mitochondrial ribosomal protein L21 IGHMBP2 11q13.2-q13.4 immunoglobulin mu binding protein 2 MRGD 11 mas-related G protein-coupled MRGD MGC21621 11q13.1 G protein-coupled receptor MrgF TPCN2 11q13.1 two pore segment channel 2 LOC338694 11q13.2 hypothetical protein LOC338694 MYEOV 11q13.1 myeloma overexpressed gene (in a subset of t(11;14) positive multiple myelomas) LOC390218 11 similar to Interferon-induced transmembrane protein 3 (Interferon-inducible protein 1-8U) LOC220061 11q13.2 similar to proline rich antigen 2 CCND1 11q13.3 cyclin D1 (PRAD1: parathyroid adenomatosis 1) ORAOV1 11q13 oral cancer overexpressed 1 FGF19 11q13.1 fibroblast growth factor 19 FGF4 11q13.3 fibroblast growth factor 4 (heparin secretory transforming protein 1, Kaposi sarcoma oncogene) FGF3 11q13.3 fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog) ORAOV2 11q13.2 oral cancer overexpressed 2 FADD 11q13.3 Fas (TNFRSF6)-associated via death domain PPFIA1 11q13.3-q13.5 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 EMS1 11q13.3 ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate) SHANK2 11q11 SH3 and multiple ankyrin repeat domains 2 LOC220070 11q13.2 hypothetical protein BC004224 LOC341140 11q13.2 similar to Actin, alpha 1, skeletal muscle DHCR7 11q13.2-q13.5 7-dehydrocholesterol reductase NADSYN1 11q13.2 NAD synthetase 1 LOC57830 11q13.2 UHS KerB KRN1 11q13.5 keratin, cuticle, ultrahigh sulphur 1 LOC390219 11 LOC390219 OR7E3P 11q13 olfactory receptor, family 7, subfamily E, member 3 pseudogene LOC255620 11q13.2 hypothetical gene supported by NM_030930; AY007125 OR7E4P 11p15 olfactory receptor, family 7, subfamily E, member 4 pseudogene FLJ10661 11q13.3 hypothetical protein FLJ10661 LOC283202 11q13.3 hypothetical LOC283202 OR7E10P 8p22 olfactory receptor, family 7, subfamily E, member 10 pseudogene RNF121 11q13.3 ring finger protein 121
    RNA
    TRANSCRIPTS type messenger
    text 5 alternatively spliced cassette exons (exons 10, 18, 24, 25, and 31) (Zurner 2009)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    26 - 3945 - 1185 - Serra-Pages, Tan (2008)
    28 - 5227 - 1202 - Serra-Pages, Tan (2008)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal region predicted to form coiled-coil structures
  • three C-terminal SAM (sterile--motif) domains that constitute the LH (liprin homology) region, and PDZ interaction motif mediating the binding to the adaptor protein GRIP (Zurner 2009)
  • mono polymer homomer , dimer
    HOMOLOGY
    interspecies ortholog to C.elegans celiprin alpha
    intraspecies homolog to LAR-interacting protein LIP1 alpha
    homolog to PPFIA4, PPFIA3, PPFIA2
    Homologene
    FAMILY
  • liprin family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    text localized in axons and dendrites, in agreement with their association with pre- and postsynaptic protein complexes (Zurner 2009)
    basic FUNCTION
  • protein tyrosine phosphatase, receptor type, may regulate the disassembly of focal adhesions
  • may act as an invasion inhibitor in head and neck squamous cell carcinoma
  • plays a crucial role in synapse assembly and function (Zurner 2009)
  • . play three important roles: first, in the assembly, organization, and function of presynaptic active zones; second, in the development and maintenance of dendritic spines and excitatory synapses; and third, in vesicular trafficking (Zurner 2009)
  • PHLDB1 and PHLDB2 are required, together with PPFIA1, for effective migration and tumor cell invasion, and do so by stabilizing the protrusive activity at the cell front
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding membrane distal D2 PTPase domain of the LAR family of PTPases (PTPRD, PTPRF, PTPRS) through the LH domain
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   amplification    
    in head and neck squamous cell carcinoma
    tumoral   amplification    
    in breast cancer, coamplified with CCND1 (Dancau 2010)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS